Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for α2 chain of laminin)
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/5200743.pdf
Reference11 articles.
1. Tomé FMS . The saga of congenital muscular dystrophy Neuropediatrics 1999 30: 55–65
2. Hayashi YK, Tezak Z, Momoi T et al. Massive muscle cell degeneration in the early stage of merosin-deficient congenital muscular dystrophy Neuromuscul Disord 2001 11: 350–359
3. Muntoni F, Blake D, Brockington M et al. 85th ENMC International Workshop on Congenital Muscular Dystrophy 6th International CMD Workshop 1st Workshop of the Myo-Cluster Project ‘GENRE’ 27–28th October 2000, Naarden, The Netherlands. Neuromuscul Disord 2001 12: 69–78
4. He Y, Jones KJ, Vignier N et al. Mild congenital muscular dystrophy with primary partial laminin α2 chain deficiency: molecular study Neurology 2001 57: 1319–1322
5. Guicheney P, Vignier N, Zhang X et al. PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy J Med Genet 1998 35: 211–217
Cited by 114 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Synergy between Laminin-Derived Elastin-like Polypeptides (LELPs) Optimizes Cell Spreading;Biomacromolecules;2024-05-30
2. Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families;Neurogenetics;2024-02-01
3. Merosin-deficient congenital muscular dystrophy type 1a: detection of LAMA2 variants in Vietnamese patients;Frontiers in Genetics;2023-06-14
4. Early diagnosis of congenital muscular pathologies using next-generation sequencing: experiences from a tertiary center in Morocco;Egyptian Journal of Medical Human Genetics;2023-05-23
5. Vemurafenib improves muscle histopathology in a mouse model of LAMA2-related congenital muscular dystrophy;Disease Models & Mechanisms;2023-05-10
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3